Hereditary xanthinuria in two patients: A rare cause of hypouricemia;La xanthinurie hereditaire, cause rare d'hypo-uricemie: 2 observations

Presse Medicale

Volumn 27, Issue 14, 1998, Pages 661-663

  Mayaudon, H ^a   Burnat, P ^b   Eulry, F ^c   Payen, C ^b   Dupuy, O ^a   Ducorps, M ^a   Bauduceau, B ^a  

^a Service d'Endocrinologie   (France)

^b Lab Biochim Toxicologie Cliniques   (France)

^c Service de Rhumatologie   (France)

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXANTHINE; URIC ACID; XANTHINE; XANTHINE OXIDASE;

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; ENZYME DEFECT; FEMALE; HUMAN; HYPOURICEMIA; MALE; URINE VOLUME; UROLITHIASIS; XANTHINURIA; BLOOD; CHROMOSOME ABERRATION; CHROMOSOME DISORDER; GENETICS; INBORN ERROR OF METABOLISM; NEPHROLITHIASIS; RECESSIVE GENE; URINE;

ADULT; AGED; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; FEMALE; GENES, RECESSIVE; HUMANS; KIDNEY CALCULI; MALE; METABOLISM, INBORN ERRORS; URIC ACID; XANTHINE; XANTHINE OXIDASE;

EID: 0032507373     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Simmonds HA, Stutchbury JH, Webster DR et al. Pregnancy in xanthinuria: demonstration of fetal uric acid production? J Inherit Metab Dis 1984 ; 7:77-9.
2. Rytkönen EM, Halila R, Laan M et al. The human gene for xanthine dehydrogenase (XDH) is localized on chromosome band 2p22. Cytogenet Cell Genet 1995 ; 68:61-3.
3. Ichida K, Amaya Y, Kamatani N, Nishmo T, Hosoya T, Sakai O. Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. J Clin Invest 1997 ; 99:2391-7.
4. Badertscher E, Robson WL, Leung AK, Trevenen CL. Xanthine calculi presenting at 1 month of age. Eur J Pediatr 1993 ; 152: 252-4.
5. Mitnick PD, Beck LH. Hypouricemia and malignant neoplasms. A new case of xanthinuria. Arch Intern Med 1979; 139:1186-7.
6. Bennett MJ, Carpenter KH, Hill PG. Asymptomatic xanthinuria detected as a result of routine analysis of serum for urate (letter). Clin Chem 1985 ; 31:492.
7. Harkness RA, Coade SB, Walton KR, Wright D. Xanthine oxydase deficiency and «Dalmatian» hypouricemia, incidence and effect of exercise. J Inherit Metab Dis 1983 ; 6:114-20.
8. Frayha RA, Salti IS, Amaout A, Khatchadurian A, Uthman SM. Hereditary xanthinuria: report on three patients and short review of the literature. Nephron 1977 ; 19:328-32.
9. Bradbury MC, Henderson M, Brocklebank JT, Simmonds HA. Acute renal failure due to xanthine stones. Pediatr Nephrol 1995 ; 9:476-7.
10. Parker R, Snedden W, Watts RWE. The quantitative determination of hypoxanthine and xanthine («oxypurines») in skeletal muscle from two patients with congenital xanthine oxidase deficiency (xanthinuria). Biochem J 1970 ; 116:317.
11. Delbarre F, Weissenbach R, Auscher C, de Gery A. Accès de goutte chez un xanthinurique. Nouv Presse Med 1973 ; 2:2465.
12. Bory C, Chantin C, Boulieu R. Comparison of capillary electrophoretic and liquid chromatographic determination of hypoxanthine and xanthine for the diagnosis of xanthinuria. J Chromatogr A 1996 ; 730:329-31.
13. Kawachi M, Kono N, Mineo I, Yamada Y, Tarui S. Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria. Clin Chim Acta 1990 ; 188:137-46.
14. Blau N, De Klerk JB, Thöny B et al. Tetrahydrobioptenn loading test in xanthine deshydrogenase and molybdenum cofactor deficiencies. Biochem Mol Med 1996 ; 58:199-203.
15. Salti IS, Kattuah N, Alam S, Wehby V, Frayha R. The effect of allopurinol on oxypunne excretion in xanthinuria. J Rheumatol 1976 ; 3:201-4.